ClinVar Miner

Submissions for variant NM_004064.5(CDKN1B):c.281_282insT (p.Lys96fs)

dbSNP: rs1946493725
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001237128 SCV001409879 pathogenic Multiple endocrine neoplasia type 4 2019-10-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CDKN1B are known to be pathogenic (PMID: 17030811, 24819502). This variant has not been reported in the literature in individuals with CDKN1B-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys96Glnfs*29) in the CDKN1B gene. It is expected to result in an absent or disrupted protein product.
Ambry Genetics RCV003166472 SCV003912030 pathogenic Hereditary cancer-predisposing syndrome 2022-11-03 criteria provided, single submitter clinical testing The c.281_282insT pathogenic mutation, located in coding exon 1 of the CDKN1B gene, results from an insertion of one nucleotide at position 281, causing a translational frameshift with a predicted alternate stop codon (p.K96Qfs*29). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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